Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD)

What is Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD)

This congenital genetic disease is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation

2 aminoadipic 2 oxoadipic aciduria is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.

Synonyms

  1. 2 aminoadipic 2 oxoadipic aciduria
  2. AMOXAD

Prevalence

<1 / 1000000

Age of onset

  1. Childhood
  2. Infancy

Symptoms of Alpha aminoadipic aciduria

  • More than half asymptomatic
  • Most common symptom is attention deficit hyperactivity disorder
  • muscular hypotonia
  • developmental delay
  • mild to severe intellectual disability
  • moderately delayed psychomotor development (sitting alone at 10 months and walking alone at 25 months) in infancy
  • ataxia
  • epilepsy
  • behavioral disorders
  • slight mental retardation (IQ 86)

Prognosis

Prognosis is good with early Physiotherapy and Occupational therapy

Treatment

  1. Physiotherapy
  2. Occupational therapy
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